Varaico: Literature-Extracted Genetic Variants

SLC25A1

341 papers

RefSeq Summary

This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the ...

Pfam Domains

Mito_carraa 14–110UCSCMitochondrial carrier protein

Mito_carraa 22–116UCSCMitochondrial carrier protein

Mito_carraa 113–205UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 1

HGNC Previous Symbol

SLC20A3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005984.5

p.R198C

c.592C>T

Surrounding Variants

6 papers

NM_005984.5

p.R198H

c.593G>A

1 paper

NM_005984.5

p.F200L

c.600C>A

7 papers

NM_005984.5

p.M202T

c.605T>C

1 paper

NM_005984.5

p.S193L

c.578C>T

7 papers

NM_005984.5

p.S193W

c.578C>G

1 paper

NM_005984.5

p.K190delins

c.568_569delinsTC

1 paper

NM_005984.5

p.R206R

c.618C>A

5 papers

NM_005984.5

p.R210*

c.628C>T

1 paper

NM_005984.5

p.T185A

c.553A>G

2 papers

NM_005984.5

p.L184F

c.550C>T

1 paper

NM_005984.5

p.Y181H

c.541T>C

1 paper

NM_005984.5

p.G179insFs

c.535_536insA